Whole genome sequencing reveals a de novo SHANK3 mutation in familial autism spectrum disorder.

Introduction: Clinical genomics promise to be especially suitable for the study of etiologically heterogeneous conditions such as Autism Spectrum Disorder (ASD). Here we present three siblings with ASD where we evaluated the usefulness of Whole Genome Sequencing (WGS) for the diagnostic approach to ASD.

Methods: We identified a family segregating ASD in three siblings with an unidentified cause.